Familial case of Fryns syndrome in two fetuses in second trimester

Abstract

Fryns syndrome (FS) is a multiple congenital anomaly syndrome, inherited as an autosomal recessive defect with diagnostic triad including diaphragmatic hernia, abnormal face, and distal limb anomalies. Two cases of FS in the fetuses, whose mother had previous affected pregnancy with the infant having diaphragmatic hernia are presented. Both fetuses have atypical limb deformity, ectrodactyly. These cases illustrate the spectrum of FS and the importance of a family history in fetuses with congenital diaphragmatic hernia.